laboratory genetic investigations, clinical genetic service
TRANSCRIPT
Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
CLINICAL GENETIC SERVICE
Laboratory User Guides
Jan 2019
DEPARTMENT OF HEALTH GOVERNMENT OF HONG KONG SAR
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
Page 1 of 16
Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
We comply with the Personal Data (Privacy) Ordinance of Hong Kong
and applicable laws and regulations to protect personal data privacy.
To complaint our service, please write or contact to Laboratory Director,
Genetic Laboratory with the information at the footer.
Compared with the previous version of July 2018:
A new test for C9ORF72 gene
Last updated on 27 December 2018
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
The Clinical Genetic Service (CGS) of the Department of Health in Hong Kong is a government-funded, tertiary
referral center that provides clinical, laboratory, counseling services related to genetic disorders. The function of
the Genetic Laboratory is to back up Genetic Counseling Clinic within this Service. Presently the Laboratory
accepts specimens only via the Genetic Counseling Clinic of the CGS. For more information about the laboratory
service, please call
Enquire Telephone : (852) 2725 4144
Fax : (852) 2729 1440
Email : [email protected]
Specimen Submission Information
1. Clinical Specimens
Cytogenetic testing: 3 ml heparin blood
1 to 2 ml more for additional FISH study
Molecular testing: 3 ml EDTA blood
Samples need to be identified accurately and patient should not be fasted for overnight. The container of specimen
shall be labeled with patient’s name (in capital letters) and the HKID/Travel document number (2 unique identifiers).
Each specimen must be accompanied with a requisition form. Please fill patient name in capital letters and the
HKID/Travel document number on the requisition form, which SHALL also include the followings:
- Date of birth and sex
- Date of specimen taken Remarks:
- Date of request Blood will be rejected if clotted, hemolyzed, quantity
- Type of specimen insufficient for Cytogenetic testing or delivery time
- Name and signature of physician requesting test was more than 7 days after collection.
- Name and institution of referring doctor
- Type of test requested
- Pedigree (if needed)
2. Delivering Specimens
After blood taken, specimen should be delivered at the same day (before 5 PM) as soon as possible
- Deliver at room temperature;
- Store at 4oC if unable to deliver at the same day. Never ice or freeze the blood;
- In a plastic bag separately with the Requisition Form.
To: 2/F, Laboratory, Cheung Sha Wan Jockey Club Clinic
2 Kwong Lee Road, Sham Shui Po
Kowloon, Hong Kong
Tel: 2708 7112 (attention: Mr. Leung)
For operational need, it is advised to take blood and send on Monday or Tuesday or Friday for Cytogenetic testing.
For DEB fragility testing, it is advised to take blood and send on Monday or Tuesday with the control sample.
Whenever possible, the control should be appropriately matched with the characteristics of the test sample, such as sex,
age, cigarette smoking and undercurrent illness.
Further re-arrangement is necessary for the blood taken and delivery during or before public holidays.
3. Turnaround Time (TAT)
For routine service cases: Cytogenetic testing: 28 calendar days
FISH & array CGH: 2 months
Molecular testing: 2-6 months (refer to the table below)
For urgent cases: Cytogenetic testing: 8 calendar days
Molecular testing: 14 calendar days
For prenatal and urgent NGS-based testing, please consult our on
call clinical geneticist.
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Cytogenetics Service
Conventional Cytogenetic Investigations for Blood
G banding
DEB fragility study
C staining
Molecular Cytogenetics (FISH & Array CGH) Investigations
Array CGH (Agilent CGX array 8x60K)
Telomere probes and whole chromosome painting probes
Microdeletion probes
Investigation Locus Involved
Cri du Chat syndrome 5p15.2-15.3
DiGeorge syndrome 22q11.2
Kallman syndrome Xp22.3
Miller Dieker syndrome 17p13.3
Prader Willi / Angelman syndrome 15q11-13
Retinoblatoma (Rb) 13q14
Smith Magenis syndrome 17p11.2
Steroid sulphatase deficiency Xp22.3
Williams syndrome 7q11.23
Wolf-Hirschhorn syndrome 4p16.3
SRY Yp11.3
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Molecular Service
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Next Generation Sequencing and MLPA Targeted Panels
Alport syndrome panel - COL4A3, COL4A5 point mutation 4 months#
Common lethal skeletal disease panel - TP63, GLI3,
COL1A2,
COL1A1, TRIP11,
COL2A1, FGFR3,
ALPL
point mutation 4 months#
Cardiomyopathy panel - 58 genes
refer Appendix A
point mutation 4 months#
Extended Hereditary cancer syndrome panel - 143 genes
refer Appendix A
point mutation 4 months#
Hereditary cancer syndrome panel ( Breast and
colorectal cancer) - BRCA1, BRCA2,
PTEN, TP53,
MLH1,MSH2,
MSH6, PMS2,
EPCAM, APC,
MUTYH
point mutation
deletion / duplication for
BRCA1 and BRCA2 only
4 months#
DMD panel - DMD point mutation
deletion / duplication
4 months#
Hemophilia A panel - F8 point mutation
deletion / duplication
4 months#
Kabuki syndrome panel - KMT2D, KDM6A point mutation
deletion / duplication
4 months#
Marfan and aortopathy panel - FBN1, TGFBR1,
TGFBR2,
SMAD3,
SLC2A10, MYLK,
MYH11, COL3A1,
ACTA2
point mutation
deletion / duplication for
FBN1 and TGFBR2 only
4 months#
NF panel - NF1, NF2 point mutation
deletion / duplication
4 months#
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Polycystic kidney diseases panel - PDK1, PKD2,
PKHD1
point mutation
deletion / duplication for
PKD1 and PKD2 only
4 months#
Rasopathy panel - PTPN11, BRAF,
CBL, HRAS,
KRAS, NRAS,
MAP2K1&2,
RAF1, RIT1,
SHOC2, SOS1,
SPRED1, RASA1
point mutation 4 months#
Tuberous sclerosis panel - TSC1, TSC2 point mutation
deletion / duplication
4 months#
Chromatin related disease panel - 23 genes
refer Appendix A
point mutation 4 months#
X-linked intellectual disability 91 genes
refer Appendix A
point mutation 4 months#
Skeletal dysplasia panel - 177 genes
refer Appendix A
point mutation 4 months#
Genetic myopathy panel - 83 genes
refer Appendix A
point mutation 4 months#
Genetic neuropathy panel 50 genes
refer Appendix A
point mutation 4 months#
Hereditary Spastic Paraplegia panel - 40 genes
refer Appendix A
point mutation 4 months#
Ciliopathy panel 74 genes
refer Appendix A
point mutation 4 months#
Inherited Arrhythmia disease panel - 30 genes
refer Appendix A
point mutation 4 months#
Genetic Endocrine disease panel 167 genes
refer Appendix A
point mutation 4 months#
Eye disease panel - 73 genes
refer Appendix A
point mutation 4 months#
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Hearing impairment panel 94 genes
refer Appendix A
point mutation 4 months#
Epilepsy panel - 58 genes
refer Appendix A
point mutation 4 months#
Neurogenetic disease panel 111 genes
refer Appendix A
point mutation 4 months#
# TAT for above NGS panel testing is around 4 months. Additional 1-2 months is needed if further confirmation testing is
necessary.
# For those tests involving both sequencing and deletion/duplication, they are treated as 2 separate tests and are not tested in a
reflex manner. Separate requests are required.
CHROMOSOMAL ABNORMALITIES
Intellectual Disability (ID) related
microdeletion syndromes - 11 loci causing ID
syndromes
deletion 2 months
Subtelomeric deletion/duplication - Telomeres deletion / duplication 2 months
Aneuploidies - chromosomes 13,
18, 21, X, Y
trisomy 13, 18, 21 2 months
CRANIOSYNOSTOTIC SYNDROME
Antley-Bixler syndrome 201750 POR point mutation 4 months
Apert syndrome
Crouzon Syndrome
Pfeiffer syndrome
101200
123500
101600
FGFR2 point mutation 4 months
Saethre-Chotzen syndrome 101400 TWIST deletion 4 months
EYE DISEASES
Aniridia 106210 PAX6 point mutation / deletion 4 months#
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Cone-Rod dystrophy, type 2 120970 CRX point mutation 4 months
Corneal dystrophy, lattice type 122200 TGFBI point mutation 4 months
Congenital fibrosis of the extraocular muscles,
type 1
135700 KIF21A point mutation 4 months
Norrie disease 310600 NDP point mutation 4 months
Peters plus syndrome 261540 B3GALTL point mutation 4 months
SOX2-related eye disorder 184429 SOX2 point mutation 4 months
HEARING LOSS
Branchio-oto-renal syndrome, type 1 113650 EYA1 Deletion / duplication 4 months
Deafness, congenital, with inner ear agenesis,
microtia, and microdontia
610706 FGF3 point mutation 4 months
Non-syndromic deafness 220290 GJB2 / GJB6 point mutation / deletion 2 months
Non-syndromic deafness 500008 Mito - RNR1 m.1555A>G 2 months
Waardenburg syndrome, type 1 193500 PAX3 point mutation / deletion 4 months#
HEART DISEASE
Non-syndromic congenital heart disease 108900 NKX2-5 point mutation 4 months
HEMATOLOGY
-Thalassemia -globin region Southeast Asia type
deletion / rightward or
leftward deletion
4 months
point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Hemophilia A 306700 F8 Introns 1 & 22 inversion 4 months
Hemophilia A 306700 F8 point mutation 4 months
Hemophilia B 306900 F9 point mutation / deletion 4 months#
INBORN ERRORS of METABOLISM
Fabry disease 301500 GLA point mutation 4 months
Hypothyroidism, athyroidal, with spiky hair
and cleft palate
241850 FOXE1 point mutation / deletion 4 months#
Hypothyroidism, choreoathetosis, neonatal
respiratory distress
610978 NKX2-1 point mutation / deletion 4 months#
Hypothyroidism, congenital, nongoitrous, type 1 275200 TSHR point mutation / deletion 4 months#
Hypothyroidism, congenital, nongoitrous, type 2 218700 PAX8 point mutation / deletion 4 months#
Infantile systemic hyalinosis 228600 ANTXR2 point mutation 4 months
Leigh syndrome 256000 SURF1 point mutation 4 months
Mitochondrial disorder panel
MELAS (m.3243A>G)
MERRF (m.8344A>G)
NARP (m.8993T>G)
LHON (m.3460G>A, m.11778G>A,
m.14484T>C)
540000
545000
551500
535000
Mitochondrion point mutation 2 months
Mowat-Wilson syndrome 235730 ZEB2 point mutation / deletion 4 months#
Mucolipidosis II /
Mucolipidosis III /
252500
252600
GNPTAB point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Mucopolysaccharidosis type II 309900 IDS point mutation 4 months
Pyruvate dehydrogenase E1- deficiency 312170 PDHA1 point mutation / deletion 4 months#
Wilson disease 277900 ATP7B point mutation / deletion 2 months#
MALIGNANCY
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
171400 RET point mutation / deletion 4 months#
Peutz-Jeghers syndrome 175200 STK11 point mutation 4 months
Retinoblastoma 180200 RB1 point mutation / deletion 4 months#
Schwannoma, vestibular nerve tumor 162091 SMARCB1 point mutation / deletion 4 months#
Von Hippel-Lindau syndrome 193300 VHL point mutation / deletion 2 months#
NEUROLOGY
Amyotrophic lateral sclerosis 205250 SOD1 point mutation 4 months
Amyotrophic lateral sclerosis 614260 C9ORF72 Hexanucleotide expansion 4 monthsNEW
Charcot-Marrie-Tooth disease, 1A 118220 PMP22 Gene duplication
2 months
Hereditary Neuropathy with liability pressure
palsies
162500 PMP22 Gene deletion
Charcot-Marrie-Tooth disease, 1B 118200 MPZ point mutation 4 months
Charcot-Marrie-Tooth disease, X-linked, 1 302800 GJB1 point mutation 4 months
Congenital central hypoventilation syndrome 209880 PHOX2B point mutation /
polyalanine expansion
4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Dystonia, AD 128100 DYT1 GAG deletion 4 months
Fragile X syndrome 300624 FMR1 CGG expansion 2 months
Fragile X syndrome, type E 309548 AFF2 GCC expansion 4 months
Friedreich ataxia 229300 FXN GAA expansion 2 months
Huntington disease 143100 HTT CAG expansion 2 months
Pelizaeus-Merzbacher disease
Spastic paraplegia 2, X-linked
312080
312920
PLP1 gene duplication
point mutation
4 months
4 months
Spastic paraplegia 44, AR 613206 GJC2 point mutation 4 months
Spinocerebellar ataxias panel:
SCA1
SCA2
SCA3
SCA6
SCA7
SCA8
SCA12
SCA17
Dentatorubral-pallidoluysian atrophy
164400
183090
109150
183086
164500
608768
604326
607136
125370
ATXN1
ATXN2
ATXN3
CACNA1A
ATXN7
ATXN80S
PPP2R2B
TBP
ATN1
CAG expansion
CAG expansion
CAG expansion
CAG expansion
CAG expansion
CTG expansion
CAG expansion
CAG expansion
CAG expansion
2 months
Subcortical band heterotopias, X-linked 300067 DCX point mutation / deletion 4 months
NEURO-MUSCULAR DISEASES
Duchenne muscular dystrophy 310200 DMD Exon(s) deletion /
duplication 2 months
point mutation 4 months#
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Kennedy’s disease 313200 AR CAG expansion 4 months
Myotonic dystrophy, type 1 (PCR) 160900 DMPK CTG expansion 2 months additional 2
months is
need if
further
Southern
blot testing
is needed
Myotonic dystrophy (Southern blot)
Myotonic dystrophy, type 2 602668 CNBP CCTG expansion 4 months
Oculopharyngeal muscular dystrophy 164300 PABPN1 GCG insertion 4 months
Spinal muscular atrophy 253300 SMN1 Exons 7&8 deletion 2 months
RENAL DISEASES
Alport syndrome, AD 301050 COL4A5 point mutation 4 months
Alport syndrome, AR 203780 COL4A3 point mutation 4 months
Nephrogenic diabetes insipidus 304800 AVPR2 point mutation / deletion 4 months#
Polycystic kidney disease, AD 173900
613095
PKD1 & PKD2 point mutation / deletion 4 months#
Polycystic kidney disease, AR 263200 ARPKD point mutation 4 months
DERMATOLOGIC DISORDER
Ectodermal dysplasia 1, hypohidrotic, X-linked 305100 EDA point mutation / deletion 4 months#
Epidermolysis bullosa dystrophica, AR 226600 COL7A1 point mutation 4 months
Incontinentia pigmenti 308300 NEMO exons 6-12 deletion 4 months
point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
SKELETAL DYSPLASIA
Achondrogenesis, type Ib
Diatrophic dysplasia
Epiphyseal dysplasia, multiple, 4
600972
222600
226900
SLC26A2 point mutation 4 months
Achondroplasia 100800 FGFR3 c.1138G>A 4 months
Atelosteogenesis type 1 and type 3
Larsen syndrome
108720
108721
FLNB point mutation 4 months
Brachydactyly type B1 113000 ROR2 point mutation 4 months
Campomelic dysplasia 114290 SOX9 point mutation 4 months
Chondrodysplasia with joint dislocations,
GRAPP type
614078 IMPAD1 Point mutation 4 months
Cleidocranial dysplasia 119600 RUNX2 point mutation / deletion 4 months#
Desbuquois dysplasia 251450 CANT1 point mutation 4 months
Fibrodysplasia Ossificans Progressiva 135100 ACVR1 point mutation 4 months
Hypochondroplasia 146000 FGFR3 c.1620C>G or C>A 4 months
Hypophosphatatemic rickets, AD 193100 FGF23 point mutation 4 months
Hypophosphatatemic rickets, X-linked 307800 PHEX point mutation 4 months
Leri-Weill dyschondrosteosis
Langer mesomelic dysplasia
127300
249700
SHOX gene deletion 4 months
point mutation 4 months
Metaphyseal chondrodysplasia, McKusick type 157660 RMRP point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Multiple exotoses 133700 EXT1 point mutation / deletion 4 months#
Nail-patella syndrome 161200 LMX1B point mutation / deletion 4 months#
Pseudoachondroplasia 177170 COMP GAC expansion 4 months
Pseudohypoparathyroidism 174800
603233
GNAS point mutation
copy number &
methylation
4 months
4 months
TP63-related disorder - TP63 point mutation 4 months
Thanatophoric Dysplasia I 187600 FGFR3 point mutation 4 months
Schwartz-Jampel syndrome type 2 601559 LIFR point mutation 4 months
SEX DISORDER
46XY Sex reversal
46XX Sex reversal
400044
400045
SRY The presence of SRY 2 months
point mutation 4 months
SYNDROMES / DYSMORPHOLOGY
Angelman syndrome 105830 UBE3A point mutation 4 months
Beckwith-Wiedemann syndrome
Russell-Silver syndrome
130650 H19DMR &
KvDMR domains
copy number &
methylation
4 months
CDKN1C point mutation 4 months
Blepharophimosis-Ptosis-Epicanhus- Inversus
syndrome (BPES)
110100 FOXL2 point mutation / deletion 4 months#
Costello syndrome 218040 HRAS point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
Page 14 of 16
Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
Test OMIM
ID
Gene/Locus
Involved
Investigation TAT
Craniofrontonasal syndrome 304110 EFNB1 point mutation / deletion 4 months#
Spondylocostal dysostosis 2, AR 608681 MESP2 point mutation 4 months
Spondyloepiphyseal dysplasia with congenital
joint dislocation
143095 CHST3 point mutation 4 months
Li-Fraumeni syndrome 151623 TP53 point mutation / deletion 4 months#
LOWE syndrome 309000 OCRL point mutation 4 months
Noonan syndrome 163950 PTPN11 point mutation 4 months
Prader Willi syndrome (PWS) / Angelman
syndrome (AS)
176270
105830
PWS / AS critical
region at 15q11-
q13
Microdeletion /
Uniparental disomy at
15q11-q13
2 months
Rett syndrome 312750 MECP2 point mutation / deletion 4 months#
Simpson-Golabi-Behmel syndrome, type 1 312870 GPC3 point mutation / deletion 4 months#
Sotos syndrome 117550 NSD1 point mutation / deletion 4 months#
Van der Woude syndrome
Popliteal pterygium syndrome
119300 IRF6 point mutation 4 months
Variant Rett syndrome 613454 FOXG1 point mutation 4 months
Wolfram syndrome 222300 WSF1 point mutation 4 months
Miscellaneous
Abnormal X-inactivation pattern - AR Abnormal X-inactivation 4 months
Alveolar capillary dysplasia 265380 FOXF1 point mutation 4 months
Central diabetes insipidus 125700 AVP point mutation 4 months
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
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Genetic Laboratory, Clinical Genetic Service, Department of Health Laboratory User Guides (Jan 2019 Updated)
CGS-LAB-MQS-MENU_01_2019
End of the Laboratory User Guides
Next version will be available in July 2019
Laboratory Address: 2/F., 2 Kwong Lee Road, Shum Shui Po, Kowloon, Hong Kong SAR, China
Tel: (852) 2725-4144 Fax: (852) 2729-1440 Email: [email protected]
Page 16 of 16
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Appendix A : Gene list of NGS panel
Updated on 20/12/2018
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
ABCC9 AIP CHD7 ACSL4, ACAN ACTA1 AARS AFG3L2 ACVR2B AKAP9 ABCC6 AGK ACTG1 ADSL ABCB7
ACTC1 AKT1 RSK2 (RPS6KA3) AFF2, ACP5 AGRN ATL1 ALS2 AHI1 ANK2 ABCC8 B3GLCT(B3GALTL) ATP2B2 ALDH7A1 ACVRL1/ALK1
ACTN2 ALK ADNP AP1S2, AGPS ANO5 (LGMD2L) ATP7A AP5Z1 ANKS6 CACNA1C ABCC8 BCOR BDP1 ALG13 AFG3L2
BAG3 ANTXR1 ESCO2 ARHGEF9, ALPL BIN1 BSCL2 ATL1 ARL13B CACNB2 AGPAT2 BCOR CABP2 ARFGEF2 AFG3L2
CALR3 ANTXR2 SMARCA2 ARX, ANKH CAPN3 (LGMD2A) DNAJB2 B4GALNT1 ARL6 CASQ2 AGPAT2 BFSP1 CCDC50 ARGGEF15 ALS2
CAV3 APC SOX11 ATP6AP2, ANO5 CAV3 (LGMD1C) DNM2 BSCL2 B9D1 CAV3 AGPS BFSP2 CEACAM16 ARHGEF9 ANG
COX15 ASCC1 ANKRD11 ATP7A, ARHGAP31 CCDC78 DNMT1 C12orf65 B9D2 DSC2 AKR1C2 BMP4 CLDN14 ARX ANO3
CRYAB ATM HDAC8 ATRX, ARSE CFL2 DYNC1H1 CYP27A1 BBS1 DSG2 AP2S1 BMP4 COCH ATP1A3 APP
CSRP3 ATR SMARCA4 BCOR, ATP6V0A2 CHAT EGR2 CYP2U1 BBS10 DSP AR CHMP4B COL11A2 ATRX APTX
DES AXIN2 TBC1D24 BRWD3, B3GALT6 CHKB FAM134B CYP7B1 BBS12 GPD1L ARSE COL4A1 COL4A6 CDKL5 ATM
DMD BAP1 ARID1A CASK, B4GALT7 CHRNA1 FGD4 DDHD1 BBS2 HCN4 ARX COL4A1 CRYM CHD2 ATP1A2
DSC2 BARD1 NIPBL CCDC22, BMP1 CHRNB1 FIG4 DDHD2 BBS4 JUP ATRX CRYAA DFNA5 CHRNA2 ATP1A2
DSG2 BLM SMARCB1 CDK16, BMP2 CHRND GAN FA2H BBS5 KCNE1 B3GALTL CRYAB DFNB31 CHRNA4 ATP1A3
DSP BMPR1A WNT5A CDKL5, BMPR1B CHRNE GARS FIG4 BBS7 KCNE2 BCOR CRYBA1 DFNB59 CHRNB2 ATP1A3
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
DTNA BRCA1 ARID1B CLIC2, CA2 CNTN1 GDAP1 GBA2 BBS9 KCNE3 BMP4 CRYBA2 DIABLO CLCN4 ATP7B
EMD BRCA2 PHF6 CNKSR2, CANT1 COL6A1 GJB1 HSPD1 C5orf42 KCNH2 (HERG) BSCL2 CRYBA4 DIAPH1 CNTNAP2 ATP7B
EYA4 BRIP1 SMARCE1 CUL4B, CASR COL6A2 GLA KIAA0196 CC2D2A KCNJ2 BSCL2 CRYBB1 DIAPH3 EEF1A2 BMP9/GDF2
FKTN BUB1B CREBBP DCX, CC2D2A COL6A3 HSPB1 KIF1A CCDC103 KCNJ5 CASR CRYBB2 ESPN EFHC1 BMPR2
GAA CD96 RAD21 DKC1, CDH3 COLQ HSPB8 KIF5A CCDC114 KCNJ8 CASR CRYBB3 ESRRB EHMT C10orf2
GATAD1 CDC73 SMC1A DLG3, CDKN1C DAG1 (LGMD2P) IGHMBP2 L1CAM CCDC39 KCNQ1 CASR CRYGB EYA4 FOXG1 CACNA1A
GLA CDH1 EP300 DMD, CEP290 DES (LGMD1D) IKBKAP MTPAP CCDC40 NKX2.5 CAV1 CRYGC GIPC3 GABRB3 CACNA1A
JUP CDK4 ROR2 FANCB, CHST14 DNAJB6 (LGMD1E) KIF1A NIPA1 CEP164 PKP2 CAV1 CRYGD GJB2 GNAO1 CACNA1A
LAMA4 CDKN1B SMC3 FGD1, CHST3 DNM2 LITAF PLP1 CEP290 RANGRF (MOG1) CDC73 CRYGS GJB3 GRIN2A CACNB4
LAMP2 CDKN2A FLNA, CHSY1 DOK7 LMNA PSEN1 CEP41 RYR2 CDKN1A CTDP1 GJB6 GRIN2B CACNB4
LDB3 CHEK1 FMR1, CLCN5 DPAGT1 LRSAM1 REEP1 CFAP53 SCN1B CDKN1B CYP1B1 GRHL2 KCNH5 CAV1
LMNA CHEK2 FRMPD4, CLCN7 DPM2 MED25 RTN2 CFTR SCN3B CDKN1C CYP1B1 GRXCR1 KCNQ2 CCM1/KRIT1
MYBPC3 CYLD FTSJ1, COL10A1 DPM3 MFN2 SACS DNAAF1 SCN4B CDKN2B EPHA2 HGF KCNT1 CCM2
MYH6 CYP21A2 GDI1, COL11A1 DYSF (LGMD2B) MPZ SIGMAR1 DNAAF2 SCN5A CDKN2C EYA1 ILDR1 KIAA1279 CCM3/PDCD10
MYH7 DDB2 GK, COL11A2 EMD MTMR2 SLC16A2 DNAAF3 SNTA1 CEL FOXC1 KARS LGI1 CYP27A1
MYL2 DICER1 GPC3, COL1A1 FHL1 NDRG1 SLC2A1 DNAAF5 TMEM43 CEP41 FOXC1 KCNQ4 MAGI2 CYP27A1
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
MYL3 DIS3L2 GRIA3, COL1A2 FKRP (LGMD2I, FRKP) NEFL SPAST DNAH11 CHD7 FOXE3 LHFPL5 MBD5 CYP27A1
MYLK2 DKC1 HCCS, COL2A1 FKTN (LGMD2M) NGF SPG11 DNAH5 CREBBP FOXE3 LOXHD1 MECP2 EEF2
MYOZ2 EHBP1 HCFC1, COL9A1 FKTN NTRK1 SPG20 DNAI1 CUL3 FOXE3 LRTOMT MEF2C ENG
MYPN EPCAM HPRT1, COL9A2 FLNC PDK3 SPG21 DNAI2 CYB5A FRAS1 MARVELD2 NRXN1 FA2H
NEXN EPHB2 HSD17B10, COL9A3 GAA PLEKHG5 SPG7 DNAL1 CYP11A1 FRAS1 MIR96 PCDH19 FGF14
PKP2 ERCC2 HUWE1, COMP GFPT1 PMP22 VAMP1 FOXH1 CYP17A1 FREM1 MSRB3 PLCB1 FIG4
PLN ERCC3 IDS, CREB3L1 GMPPB PRPS1 VPS37A GDF1 CYP19A1 FREM1 MYH14 PNKP FTL
PRKAG2 ERCC4 IGBP1, CRTAP GTDC2 (POMGNT2) PRX WDR45 GLIS2 CYP21A2 FREM2 MYH9 PNPO FTL
PSEN1 ERCC5 IL1RAPL1, CTSK HNRNPDL RAB7A CYP11B1 FTL MYO15A POLG FUS
PSEN2 ERCC6 IQSEC2, CUL7 ISPD REEP1 (C2ORF23) ZFYVE26 INPP5E DHCR24 FYCO1 MYO3A, PRRT2 FXN
RBM20 ESCO2 KDM5C, DDR2 ITGA7 SBF2 ZFYVE27 INVS DHCR7 GALK1 MYO6 SCN1A GBA
RYR2 EXT1 KIAA2022, DHCR24 KBTB SCN9A IQCB1 DHH GALT OTOA SCN2A GBA
SCN5A EXT2 KLF8, DLL3 KBTBD13 SH3TC2 KIF7 DMP1 GCNT2 OTOF SCN8A GBA2
SCO2 FAH L1CAM, DLX3 LAMA2 SLC12A6 LEFTY2 DNMT3B GJA3 OTOG SIP1 [ZEB2] GBA2
SDHA FANCA LAMP2, DMP1 LARGE SPTLC1 LRRC6 DUOX2 GJA8 PNPT1 SLC16A2 GCH1
SGCD FANCB MAOA, DYM LIMS2 SPTLC2 MKKS DYNC2H1 GRIP1 POU3F4 SLC25A22 GLMN
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
SLC25A4 FANCC MBTPS2, DYNC2H1 LMNA (LGMD1B) TFG MKS1 EBP HCCS POU4F3 SLC2A1 [GLUT1] GNAL
TAZ FANCD2 MECP2, EBP LMOD3 TRPV4 NEK8 ENNP1 (not found, discarded) HSF4 PRPS1 SLC9A6 IFRD1
TBX20 FANCE MED12, EIF2AK3 MTM1 TTR NKX2-5 ENPP1 LEPREL1 (P3H2) PTPRQ SPTAN1 ITPR1
TCAP FANCF MID1, ENPP1 MUSK WNK1 NME8 ESCO2 LIM2 P2RX2 ST3GAL3 KCNA1
TGFB3 FANCG NAA10, ESCO2 MYF6 NODAL FAM58A MAF RDX ST3GAL5 KCNA1
TMEM43 FANCI NDP, EVC MYH7 NPHP1 FAT4 MFRP RPGR STXBP1 KCNC3
TMPO FANCL NDUFA1, EVC2 MYOT NPHP3 FEZF1 MIP SERPINB6 SYNGAP1 KCND3
TNNC1 FANCM NHS, EXT1 NEB NPHP4 FGF23 NDP SLC17A8 SZT2 KCNK3
TNNI3 FH NLGN3, EXT2 PLEC (LGMD2Q) OFD1 FGF23 NHS SLC26A5 TBC1D24 LRRK2
TNNT2 FLCN NLGN4X, FAM20C PLEC1 RPGR FIG4 OTX2 SLC4A11 TCF4 MAPT
TPM1 GALNT12 NSDHL, FBLN1 POMGNT1 (LGMD2O) RPGRIP1L FOXE1 PAX6 SMPX UBE2A MAPT
VCL GATA2
GLI3
GLMN
GPC3
HFE
OCRL,
OFD1,
OPHN1,
OTC,
PAK3,
FBN1
FBXW4
FERMT3,
FGF10,
FGF23,
POMGnT1
POMGNT2 (GTDC2)
POMK
POMT1 (LGMD2K)
POMT2 (LGMD2N)
RSPH4A
RSPH9
SDCCAG8
TCTN1
TCTN2
FRAS1
FREM2
GALNT3
GATA4
GATA6
PAX6
PITX2
PITX3
PITX3
PXDN
STRC
TECTA
TJP2
TMC1
TMIE
UBE3A MTPAP
NOTCH3
OPTN
PANK2
PARK2
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
HRAS
KDR
KIF1B
KIT
KLHDC8B
LIG4
LYST
MAX
MC1R
MEN1
MET
MITF
MLH1
MLH3
MRE11A
MSH2
PCDH19,
PDHA1,
PGK1,
PHF6,
PHF8,
PLP1,
PORCN,
PQBP1,
PRPS1,
PTCHD1,
RAB39B,
RBM10,
RPL10,
RPS6KA3,
SHROOM4,
SLC16A2,
FGFR1,
FGFR2,
FGFR3,
FKBP10,
FLNA,
FLNB,
FMN1,
GALNT3,
GDF5,
GLI3,
GNAS,
GORAB,
GPC6,
GREM1,
HDAC4,
HES7,
PTPLA
RAPSN
RYR1
SCN4A
SEPN1
SGCA (LGMD2D)
SGCB (LGMD2E)
SGCD (LGMD2F)
SGCG (LGMD2C)
SYNE1
SYNE2
TCAP (LGMD2G)
TMEM43
TMEM5
TNNT1
TNPO3 (LGMD1F)
TCTN3
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TRIM32
TTC21B
TTC8
WDPCP
WDR19
ZIC3
ZNF423
GCK
GCK
GCM2
GLUD1
GNA11
GNA11
GNPAT
GRIP1
HADH
HCCS
HESX1
HNF1A
HNF1B
HNF4A
HNF4A
HOXA13
SIL1
SLC16A12
SMOC1
SMOC1
SOX2
STRA6
TDRD7
VAX1
VIM
VSX2
WFS1
TMPRSS3
TPRN
TRIOBP
EYA1
SIX1
SIX5
KCNJ10
SLC26A4
GPSM2
LARS2
HSD17B4
HARS2
CLPP
PAX3
SOX10
MITF
PARK7
PDYN
PFN1
PINK1
PNKD
PRKCG
PRKCG
PRRT2
PRRT2
PRRT2
PRRT2
PSEN1
PSEN2
PTEN
RASA1
SACS
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
MSH6 SLC9A6, HOXD13, TPM2 HSD17B3 SNAI2 SCN1A
MSMB SMC1A, HPGD, TPM3 HSD3B2 KIT SCN1A
MSR1 SMS, HSPG2, TRAPPC11 ICK EDNRB SETX
MTAP SOX3, ICK, TRIM32 (LGMD2H) IL17RD EDN3 SETX
MUTYH SYN1, IFITM5, TTN (LGMD2J) INS WFS1 SGCE
NBN SYP, IFT122, INSR CDH23 SIGMAR1
NDUFA13 TIMM8A, IFT140, INSR CIB2 SIL1
NF1 TSPAN7, IFT80, IRF6 CLRN1 SLC16A2
NF2 UBE2A, IHH, KAL1 GPR98 SLC16A2
NTRK1 UPF3B, KIF22, KCNJ11 HARS SLC1A3
PALB2 ZDHHC15, KIF7, KCNJ11 MYO7A SLC1A3
PALLD ZDHHC9, LEMD3, KISS1R PCDH15 SLC2A1
PDE11A ZNF711 LFNG, KL PDZD7 SLC2A1
PDGFRA LIFR, KLHL3 USH1C SNCA
PIK3CA LMBR1, LHCGR USH1G SOD1
PMS2 LMNA, LHX3 USH2A SPG11
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
POLD1 LRP4, LHX4 SPG11
POLE LRP5, LMNA SPG20
POLH MAFB, LMNA SPG21
POU6F2 MATN3, MAP3K1 SPG7
PRKAR1A MESP2, MC2R SPR
PTCH1 MGP, MCM4 SPTBN2
PTCH2 MKS1, MEN1 TARDBP
PTEN MMP13, MKKS TGM6
RAD50 MMP2, MKS1 TH
RAD51B MMP9, MRAP THAP1
RAD51C MYCN, NEK1 TTBK2
RAD51D NEK1, NEUROD1 TTPA
RB1 NIPBL, NKX2-1 UBQLN2
RECQL4 NKX3-2, NNT VAMP1
RET NOG, NR0B1 VAPB
RHBDF2 NOTCH2, NR5A1 VCP
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
RNASEL NPR2, NSMF WDR45
RSPO1 OBSL1, OPHN1
RTEL1 OSTM1, PAX6
RUNX1 P3H1, PAX8
SBDS PAPSS2, PDX1
SDHA PCNT, PEX7
SDHAF2 PHEX, PHEX
SDHB PIGV, POR
SDHC PITX1, POU1F1
SDHD PLOD2, PPARG
SLX4 PLS3 PPARG
SMAD4 PPIB, PPARG
SMARCA4 PRKAR1A, PROP1
SMARCB1 PTH1R, PTH
STK11 PTHLH, PTPN11
SUFU PTPN11, PTRF
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
TERT PYCR1, PTRF
TGFBR1 RASGRP2, RET
TINF2 RECQL4, RIPK4
TMC6 ROR2, ROR2
TMC8 RPGRIP1L, RSPO1
TMEM127 RUNX2, SALL1
TP53 SALL1, SAMD9
TSC1 SALL4, SCARF2
TSC2 SERPINF1, SEMA3A
UROD SERPINH1, SETBP1
VHL SH3PXD2B, SLC16A1
WAS SHH, SLC34A3
WRN SHOX, SOX9
WT1 SLC26A2, SPECC1L
XPA SLC34A3, SRD5A2
XPC SLC35D1, SRY
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
XRCC3 SLC39A13,
SMARCAL1,
SOST,
SOX9,
SP7,
SULF1,
TBCE,
TBX15,
TBX3,
TBX5,
TBX6,
TBXAS1,
TCIRG1,
TCTN3,
TGFB1,
THPO,
STAR
STAR
TBX15
TCTN3
TG
THRA
TPO
TRMT10A
TSHR
TSPYL1
UBR1
WDR60
WNK1
WNK4
WNT4
WNT7A
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
TMEM216,
TMEM38B
TMEM67,
TNFRSF11A,
TNFRSF11B,
TNFSF11,
TP63,
TREM2,
TRIP11,
TRPS1,
TRPV4,
TYROBP,
WDR35,
WISP3,
WNT1
WNT3,
WT1
ZFP57
ZFPM2
GHR
STAT5B
IGF1
IGFALS
IGF1R
GATA3
HRPT2
Genetic Laboratory, Clinical genetic Service, Department of Health Laboratory User Guides
CGS-LAB-MQS-MENU_01_2019
Cardio
Myopathy
58 genes
No TTN
Cancer
Predisposition
Syndrome
143 genes
Chromatin
related disease
23 genes
X-Linked
MR
91 genes
Skeletal
dysplasia
177 genes
Genetic Myopathy
83 genes
Genetic
Neuropathy
50 genes
Hereditary
Spastic
Paraplegia
40 genes
Ciliopathy
74 genes
Inherited
Arrhythmia
30 genes
Genetic Endocrine
disease
167 genes
Eye disease pnael
73 genes
Hearing
impairment
panel
94 genes
Epilepsy
panel
58 genes
Neurogenetic
disease panel
111 genes
WNT5A,
WNT7A,
ZMPSTE24